Publications by authors named "E Manfredini"
Disparities in PrEP use and unmet need across PEPFAR-supported programs: doubling down on prevention to put people first and end AIDS as a public health threat by 2030.
Front Reprod Health
December 2024
Background: In 2023, an estimated 1.3 million people newly acquired HIV. In the same year, 3.
View Article and Find Full Text PDFWe describe a patient affected by congenital stationary night blindness (CSNB) secondary to CACNA1F and optic neuropathy associated with an AFG3L2 variant. We performed comprehensive neuro-ophthalmologic examinations, retinal imaging, complete ocular electrophysiology, and brain and optic nerve MRI. Genomic DNA was extracted from the peripheral blood.
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- Silver-Russell Syndrome (SRS) is a disorder that leads to growth failure, characteristic physical features, and feeding issues, with significant genetic causes remaining unclear in many cases.
- The study aimed to assess the genetic variants in undiagnosed SRS patients and determine if (epi)genetic patients show distinct characteristics compared to genetic patients.
- Findings revealed that only 9.1% of patients had identifiable pathogenic variants, emphasized body asymmetry as a key trait in (epi)genetic SRS, and recommended including IGF1R sequencing in the diagnostic process for SRS.
Inherited retinal diseases (IRDs) represent a frequent cause of blindness in children and adults. As a consequence of the phenotype and genotype heterogeneity of the disease, it is difficult to have a specific diagnosis without molecular testing. To date, over 340 genes and loci have been associated with IRDs.
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- Blue cone monochromacy (BCM) is an X-linked retinal disorder leading to low vision, sensitivity to light, and difficulty distinguishing colors due to mutations in a gene cluster on the X chromosome.
- In a study of 213 BCM families, about one-third were found to carry structural variants (SVs), predominantly deletions within the affected gene cluster, with 42 distinct SVs identified, including many new ones.
- A common SV was found in 22 families from the U.S., indicating a single ancestral mutation, while the study suggests that the structure of the gene cluster makes it vulnerable to these genetic variations.